single nucleotide variant | NM_001927.4(DES):c.1049G>C (p.Arg350Pro) | DES | Pathogenic | 2 | 220286087 | 220286087 | G | C | criteria provided, multiple submitters, no conflicts | OMIM:125660.0016,ClinGen:CA126906,UniProtKB:P17661#VAR_042454 |
single nucleotide variant | NM_001927.4(DES):c.1034T>C (p.Leu345Pro) | DES | Pathogenic/Likely pathogenic | 2 | 220286072 | 220286072 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA217003,UniProtKB:P17661#VAR_009189,OMIM:125660.0006 |
single nucleotide variant | NM_001927.4(DES):c.1024A>G (p.Asn342Asp) | DES | Pathogenic | 2 | 220286062 | 220286062 | A | G | criteria provided, single submitter | ClinGen:CA217001,UniProtKB:P17661#VAR_042453,OMIM:125660.0020 |
single nucleotide variant | NM_001927.4(DES):c.1013T>C (p.Leu338Pro) | DES | Likely pathogenic | 2 | 220285665 | 220285665 | T | C | criteria provided, single submitter | ClinGen:CA10581950 |
single nucleotide variant | NM_001927.4(DES):c.1013T>G (p.Leu338Arg) | DES | Pathogenic/Likely pathogenic | 2 | 220285665 | 220285665 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA216999,UniProtKB:P17661#VAR_067209 |
single nucleotide variant | NM_001927.4(DES):c.1009G>C (p.Ala337Pro) | DES | Pathogenic | 2 | 220285661 | 220285661 | G | C | criteria provided, single submitter | ClinGen:CA216997,UniProtKB:P17661#VAR_007900,OMIM:125660.0001 |
single nucleotide variant | NM_001927.4(DES):c.735+3A>G | DES | Pathogenic | 2 | 220285071 | 220285071 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA217084,OMIM:125660.0008 |
single nucleotide variant | NM_001927.4(DES):c.735+1G>T | DES | Pathogenic | 2 | 220285069 | 220285069 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001927.4(DES):c.735+1G>C | DES | Likely pathogenic | 2 | 220285069 | 220285069 | G | C | criteria provided, single submitter | ClinGen:CA273134 |
single nucleotide variant | NM_001927.4(DES):c.735+1G>A | DES | Pathogenic/Likely pathogenic | 2 | 220285069 | 220285069 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA261522 |